CHD1 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

CHD1

<<Warn("The variants reported in this gene in DLBCL failed QC")>>

History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1 Subsequent exome and genome-wide studies of DLBCL did not reproduce this observation.

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timeline
    title Publication timing
      2017-10-10 : Reddy : DLBCL
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Relevance tier by entity

Entity Tier Description
DLBCL 2 relevance in DLBCL not firmly established[@reddyGeneticFunctionalDrivers2017]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.10
DLBCL Schmitz cohort 2.98
DLBCL Reddy cohort 2.90
DLBCL Chapuy cohort 2.14

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 0.674 2.751
DLBCL No No 1.993 4.965
FL No No 0.000 0.000

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CHD1 Expression

References

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